Article
A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice.
International journal of molecular sciences - 27 Jul 2024
Snider Paige L, Sierra Potchanant Elizabeth A, Sun Zejin, Edwards Donna M, Chan Ka-Kui, Matias Catalina, Awata Junya, Sheth Aditya, Pride P Melanie, Payne R Mark, Rubart Michael, Brault Jeffrey J, Chin Michael T, Nalepa Grzegorz, Conway Simon J
Abstract excerpt
Cardiomyopathy is the predominant defect in Barth syndrome (BTHS) and is caused by a mutation of the X-linked Tafazzin (TAZ) gene, which encodes an enzyme responsible for remodeling mitochondrial cardiolipin. Despite the known importance of mitochondrial dysfunction in BTHS, how specific TAZ mutations cause diverse BTHS heart phenotypes remains poorly understood. We generated a patient-tailored CRISPR/Cas9...
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